scope of the gene ontology vocabularies. compile structured vocabularies describing aspects of...

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Scope of the Gene Ontology Vocabularies

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Page 1: Scope of the Gene Ontology Vocabularies. Compile structured vocabularies describing aspects of molecular biology Describe gene products using vocabulary

Scope of the Gene

Ontology Vocabularies

Page 2: Scope of the Gene Ontology Vocabularies. Compile structured vocabularies describing aspects of molecular biology Describe gene products using vocabulary

• Compile structured vocabularies describing aspects of molecular biology

• Describe gene products using vocabulary terms (annotation)

• Develop tools:• to query and modify the vocabularies and annotations• annotation tools for curators

GO Project Goals:

Page 3: Scope of the Gene Ontology Vocabularies. Compile structured vocabularies describing aspects of molecular biology Describe gene products using vocabulary

DAG Structure

Directed acyclic graph: each child may have one or more

parents

Page 4: Scope of the Gene Ontology Vocabularies. Compile structured vocabularies describing aspects of molecular biology Describe gene products using vocabulary

Every path from a node back to the root must be biologically accurate

The True Path Rule

Page 5: Scope of the Gene Ontology Vocabularies. Compile structured vocabularies describing aspects of molecular biology Describe gene products using vocabulary

• is-asubclass; a is a type of b

• part-ofphysical part of (component)subprocess of (process)

Relationship Types

Page 6: Scope of the Gene Ontology Vocabularies. Compile structured vocabularies describing aspects of molecular biology Describe gene products using vocabulary

•Molecular Function — elemental activity or task

nuclease, DNA binding, transcription factor

•Biological Process — broad objective or

goalmitosis, signal transduction, metabolism

•Cellular Component — location or complexnucleus, ribosome, origin recognition complex

The Three Ontologies

Page 7: Scope of the Gene Ontology Vocabularies. Compile structured vocabularies describing aspects of molecular biology Describe gene products using vocabulary

•Molecular Function — elemental activity or task

nuclease, DNA binding, transcription factor

•Biological Process — broad objective or

goalmitosis, signal transduction, metabolism

•Cellular Component — location or complexnucleus, ribosome, origin recognition complex

The Three Ontologies

Page 8: Scope of the Gene Ontology Vocabularies. Compile structured vocabularies describing aspects of molecular biology Describe gene products using vocabulary

• Not a way to unify biological databases

• Not a dictated standard

• Does not define evolutionary relationships

• Additional ontologies needed to model biology and experimentation

What GO is NOT:

Page 9: Scope of the Gene Ontology Vocabularies. Compile structured vocabularies describing aspects of molecular biology Describe gene products using vocabulary

• Names of gene products

• Protein domains

• Protein sequence features

• Phenotypes; diseases

• Anatomical terms (except as part of terms generated by cross-products)

Terms outside the Scope of GO

Page 10: Scope of the Gene Ontology Vocabularies. Compile structured vocabularies describing aspects of molecular biology Describe gene products using vocabulary

• Global Open Biology Ontologies

• Umbrella site for shared genomics and proteomics vocabularies

• Present incarnation: subdirectory within GO repository:

ftp://ftp.geneontology.org/pub/go/gobo/README

The GOBO Proposal

Page 11: Scope of the Gene Ontology Vocabularies. Compile structured vocabularies describing aspects of molecular biology Describe gene products using vocabulary

• Open source

• Can be instantiated in DAML+OIL or GO syntax

• Orthogonal

• Shared ID space

• Defined terms

GOBO Criteria

Page 12: Scope of the Gene Ontology Vocabularies. Compile structured vocabularies describing aspects of molecular biology Describe gene products using vocabulary

hexose glucose fructose

DAG Cross-Products

metabolism biosynthesis catabolism

hexose metabolism hexose biosynthesis glucose biosynthesis fructose biosynthesis hexose catabolism glucose catabolism fructose catabolism glucose metabolism

... etc.

Page 13: Scope of the Gene Ontology Vocabularies. Compile structured vocabularies describing aspects of molecular biology Describe gene products using vocabulary

gene gene_attribute gene_structure SO gene_variation ME gene_product gene_product_attribute molecular_function GO protein_family INTERPRO phenotype mutant phenotype

anatomy

For complete current draft see ftp://ftp.geneontology.org/pub/go/gobo/README

Some GOBO Ontologies

Page 14: Scope of the Gene Ontology Vocabularies. Compile structured vocabularies describing aspects of molecular biology Describe gene products using vocabulary

• FlyBase & Berkeley Drosophila Genome Project • WormBase• Saccharomyces Genome Database • DictyBase• Mouse Genome Informatics • Compugen, Inc• The Arabidopsis Information Resource• Swiss-Prot/TrEMBL/InterPro

• Pathogen Sequencing Unit (Sanger Institute)

• PomBase (Sanger Institute)

• Rat Genome Database

• Genome Knowledge Base (CSHL)

• The Institute for Genomic Research

www.geneontology.org

The Gene Ontology Consortium is supported by NHGRI grant HG02273 (R01). The Gene Ontology project thanks AstraZeneca for financial support. The Stanford group acknowledges a gift from Incyte Genomics.